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Biallelic mutations in\n                    <jats:italic>GBA1<\/jats:italic>\n                    are causative for Gaucher disease, whereas either monoallelic or biallelic mutations are a risk factor for Parkinson\u2019s disease.\n                    <jats:italic>GBA1<\/jats:italic>\n                    mutations, beside reducing enzymatic activity and leading to substrate accumulation, influence a number of molecular and cellular pathways, including lipid homeostasis, endosome-lysosome pathway, endoplasmic reticulum to Golgi protein trafficking, autophagy and mitophagy. Given the critical role of GBA1 in these key pathways for cellular homeostasis, it can be expected that alterations in this enzyme may influence also cancer development and\/or pathology, keeping in mind that Gaucher disease is associated with an increased risk of cancer development. Notably, a large fraction of patients affected by different cancer types carry an amplification of the long arm of chromosome 1, that includes the\n                    <jats:italic>GBA1<\/jats:italic>\n                    gene. Furthermore, GBA1 expression is elevated in different cancer tissues, compared with healthy counterparts and associated with outcome in some cases. In this perspective, we narratively review the main evidence supporting a role for\n                    <jats:italic>GBA1<\/jats:italic>\n                    in influencing tumorigenesis and we present our analyses on\n                    <jats:italic>GBA1<\/jats:italic>\n                    amplification and expression throughout different cancer types. Taken together, these data suggest that the presence of a\n                    <jats:italic>GBA1<\/jats:italic>\n                    germline mutation or a somatic amplification may influence cancer pathogenesis and\/or response to therapies through context-dependent mechanisms that are still to be characterized.\n                  <\/jats:p>","DOI":"10.1038\/s41420-026-03046-6","type":"journal-article","created":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T08:47:11Z","timestamp":1773910031000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The dual impact of GBA1 in disease: from germline mutations in neurological disorders to alterations in cancer"],"prefix":"10.1038","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1244-4453","authenticated-orcid":false,"given":"Valentina","family":"Fantini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Di Rauso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Fioravanti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5541-2075","authenticated-orcid":false,"given":"Alessia","family":"Ciarrocchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5836-1982","authenticated-orcid":false,"given":"Francesco","family":"Cavallieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4357-1228","authenticated-orcid":false,"given":"Valentina","family":"Sancisi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,3,19]]},"reference":[{"key":"3046_CR1","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1016\/S2213-2600(24)00124-3","volume":"12","author":"E Panagiotou","year":"2024","unstructured":"Panagiotou E, Vathiotis IA, Makrythanasis P, Hirsch F, Sen T, Syrigos K. 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